Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

136 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
When Rett syndrome is due to genes other than MECP2.
Percy AK, Lane J, Annese F, Warren H, Skinner SA, Neul JL. Percy AK, et al. Among authors: skinner sa. Transl Sci Rare Dis. 2018 Apr 13;3(1):49-53. doi: 10.3233/TRD-180021. Transl Sci Rare Dis. 2018. PMID: 29682453 Free PMC article.
Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings.
Neul JL, Skinner SA, Annese F, Lane J, Heydemann P, Jones M, Kaufmann WE, Glaze DG, Percy AK. Neul JL, et al. Among authors: skinner sa. Front Integr Neurosci. 2020 Feb 25;14:7. doi: 10.3389/fnint.2020.00007. eCollection 2020. Front Integr Neurosci. 2020. PMID: 32161522 Free PMC article.
MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in Mice.
Harrington AJ, Bridges CM, Berto S, Blankenship K, Cho JY, Assali A, Siemsen BM, Moore HW, Tsvetkov E, Thielking A, Konopka G, Everman DB, Scofield MD, Skinner SA, Cowan CW. Harrington AJ, et al. Among authors: skinner sa. Biol Psychiatry. 2020 Sep 15;88(6):488-499. doi: 10.1016/j.biopsych.2020.03.011. Epub 2020 Mar 31. Biol Psychiatry. 2020. PMID: 32418612 Free PMC article.
Clinical findings from the landmark MEF2C-related disorders natural history study.
Cooley Coleman JA, Sarasua SM, Moore HW, Boccuto L, Cowan CW, Skinner SA, DeLuca JM. Cooley Coleman JA, et al. Among authors: skinner sa. Mol Genet Genomic Med. 2022 Jun;10(6):e1919. doi: 10.1002/mgg3.1919. Epub 2022 Apr 13. Mol Genet Genomic Med. 2022. PMID: 35416405 Free PMC article. Review.
Parental age effects and Rett syndrome.
Fang X, Baggett LM, Caylor RC, Percy AK, Neul JL, Lane JB, Glaze DG, Benke TA, Marsh ED, Motil KJ, Barrish JO, Annese FE, Skinner SA. Fang X, et al. Among authors: skinner sa. Am J Med Genet A. 2024 Feb;194(2):160-173. doi: 10.1002/ajmg.a.63396. Epub 2023 Sep 28. Am J Med Genet A. 2024. PMID: 37768187
MEF2C regulates NK cell effector functions through control of lipid metabolism.
Li JH, Zhou A, Lee CD, Shah SN, Ji JH, Senthilkumar V, Padilla ET, Ball AB, Feng Q, Bustillos CG, Riggan L, Greige A, Divakaruni AS, Annese F, Cooley Coleman JA, Skinner SA, Cowan CW, O'Sullivan TE. Li JH, et al. Among authors: skinner sa. Nat Immunol. 2024 May;25(5):778-789. doi: 10.1038/s41590-024-01811-2. Epub 2024 Apr 8. Nat Immunol. 2024. PMID: 38589619
Developmental delay in Rett syndrome: data from the natural history study.
Neul JL, Lane JB, Lee HS, Geerts S, Barrish JO, Annese F, Baggett LM, Barnes K, Skinner SA, Motil KJ, Glaze DG, Kaufmann WE, Percy AK. Neul JL, et al. Among authors: skinner sa. J Neurodev Disord. 2014;6(1):20. doi: 10.1186/1866-1955-6-20. Epub 2014 Jul 22. J Neurodev Disord. 2014. PMID: 25071871 Free PMC article.
136 results